ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3022C>A (p.Leu1008Met)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004824012 SCV005456658 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-09-20 criteria provided, single submitter clinical testing The p.L1008M variant (also known as c.3022C>A), located in coding exon 19 of the NOTCH1 gene, results from a C to A substitution at nucleotide position 3022. The leucine at codon 1008 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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